Canonical Allele Identifier: CA393758923

Gene: POLG

Linked Data

• dbSNP Id: rs2055502246
• gnomAD v4: 15-89325457-G-T
• MyVariant Identifiers: chr15:g.89868688G>T (hg19) ; chr15:g.89325457G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325457G>T , CM000677.2:g.89325457G>T	GRCh38
NC_000015.9:g.89868688G>T , CM000677.1:g.89868688G>T	GRCh37
NC_000015.8:g.87669692G>T	NCBI36
NG_008218.1:g.14339C>A
NG_008218.2:g.14339C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1942C>A	ENSP00000516154.1:p.Pro648Thr
ENST00000268124.11:c.1942C>A MANE Select	ENSP00000268124.5:p.Pro648Thr
ENST00000530292.3:c.1543C>A	ENSP00000432885.2:p.Pro515Thr
ENST00000635986.2:c.1942C>A	ENSP00000490653.2:p.Pro648Thr
ENST00000636774.1:c.*509C>A	ENSP00000489799.1:n.*509C>A
ENST00000637238.1:c.646+33C>A	ENSP00000490756.1:n.646+33C>A
ENST00000637264.1:c.1014C>A
ENST00000666746.1:c.1519C>A
ENST00000670281.1:c.262C>A	ENSP00000499709.1:p.Pro88Thr
ENST00000672071.1:n.2140C>A
ENST00000672923.2:n.2045C>A
ENST00000268124.9:c.1942C>A	ENSP00000268124.5:p.Pro648Thr
ENST00000442287.6:c.1942C>A	ENSP00000399851.2:p.Pro648Thr
ENST00000526314.2:c.324C>A
ENST00000526398.1:c.131C>A
ENST00000526573.1:n.28C>A
ENST00000532584.5:n.144C>A
ENST00000631044.2:c.*1325C>A	ENSP00000486730.1:n.*1325C>A
NM_001126131.1:c.1942C>A	NP_001119603.1:p.Pro648Thr
NM_002693.2:c.1942C>A	NP_002684.1:p.Pro648Thr
NM_001126131.2:c.1942C>A	NP_001119603.1:p.Pro648Thr
NM_002693.3:c.1942C>A MANE Select	NP_002684.1:p.Pro648Thr